Canonical Allele Identifier: CA976322430

Gene: PHKG2

Linked Data

• dbSNP Id: rs1555467541
• gnomAD v3: 16-30756287-T-TC
• gnomAD v4: 16-30756287-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756292dup , CM000678.2:g.30756292dup	GRCh38
NC_000016.9:g.30767613dup , CM000678.1:g.30767613dup	GRCh37
NC_000016.8:g.30675114dup	NCBI36
NG_016616.1:g.12994dup
NG_016616.2:g.12994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.647+20dup MANE Select	ENSP00000455607.1:n.647+20dup
ENST00000328273.11:c.647+20dup	ENSP00000329968.7:n.647+20dup
ENST00000424889.7:c.647+20dup	ENSP00000388571.3:n.647+20dup
ENST00000563588.5:c.647+20dup	ENSP00000455607.1:n.647+20dup
ENST00000563913.5:n.980+20dup
ENST00000564838.5:n.931-298dup
ENST00000565897.5:c.647+20dup	ENSP00000457359.1:n.647+20dup
ENST00000565924.5:c.647+20dup	ENSP00000455091.1:n.647+20dup
ENST00000569684.1:n.1059+20dup
NM_000294.2:c.647+20dup	NP_000285.1:n.647+20dup
NM_001172432.1:c.647+20dup	NP_001165903.1:n.647+20dup
NM_000294.3:c.647+20dup MANE Select	NP_000285.1:n.647+20dup
NM_001172432.2:c.647+20dup	NP_001165903.1:n.647+20dup